Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152597 | SCV000201886 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Ala2308Ala in Exon 36 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (3/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs148504065). |
Labcorp Genetics |
RCV000918543 | SCV001063856 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000152597 | SCV001157184 | benign | not specified | 2019-03-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000918543 | SCV001783602 | likely benign | not provided | 2020-05-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478440 | SCV002803362 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453124 | SCV004181590 | benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453123 | SCV004181591 | benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000918543 | SCV005261764 | likely benign | not provided | criteria provided, single submitter | not provided |